Canonical Allele Identifier: CA231855716
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1053557642
COSMIC: COSM292417
MyVariant Identifiers: chr12:g.5021148G>A (hg19) chr12:g.4911982G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911982G>A , CM000674.2:g.4911982G>A GRCh38
NC_000012.11:g.5021148G>A , CM000674.1:g.5021148G>A GRCh37
NC_000012.10:g.4891409G>A NCBI36
NG_011815.1:g.7076G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.604G>A MANE Select ENSP00000371985.3:p.Val202Ile
ENST00000543874.3:n.105+1510G>A
ENST00000639306.1:c.442G>A ENSP00000492506.1:p.Val148Ile
ENST00000382545.3:c.604G>A ENSP00000371985.3:p.Val202Ile
ENST00000541095.1:n.105+1510G>A
ENST00000543874.2:n.96+1510G>A
NM_000217.2:c.604G>A NP_000208.2:p.Val202Ile
NM_000217.3:c.604G>A MANE Select NP_000208.2:p.Val202Ile
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